Variant report

Variant	rs8051974
Chromosome Location	chr16:71488771-71488772
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71487978..71492259-chr16:71492827..71496747,5	K562	blood:
2	chr16:71485371..71491957-chr16:71492064..71497509,13	K562	blood:
3	chr16:71465238..71467490-chr16:71488481..71490032,2	K562	blood:

Variant related genes	Relation type
ENSG00000247324	Chromatin interaction
ENSG00000260734	Chromatin interaction
ENSG00000167377	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10500562	0.91[CEU][hapmap]
rs12447033	0.91[CEU][hapmap];1.00[GIH][hapmap]
rs12708914	0.95[EUR][1000 genomes]
rs12922775	0.91[CEU][hapmap]
rs12927006	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs12927456	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12927768	0.82[CEU][hapmap]
rs12931191	0.91[CEU][hapmap];1.00[GIH][hapmap]
rs17280181	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17345863	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17347255	0.91[CEU][hapmap]
rs17354693	0.83[CEU][hapmap]
rs34015581	0.95[EUR][1000 genomes]
rs34380814	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34766979	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35394108	0.92[EUR][1000 genomes]
rs35837657	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35981926	0.88[EUR][1000 genomes]
rs36122765	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56893224	0.84[AMR][1000 genomes]
rs71403847	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71403849	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7195767	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7203606	0.91[CEU][hapmap];1.00[GIH][hapmap]
rs8053720	0.91[ASW][hapmap];0.90[CEU][hapmap];0.81[LWK][hapmap];0.90[MEX][hapmap];0.96[TSI][hapmap];0.84[AMR][1000 genomes]
rs8063455	0.91[CEU][hapmap];1.00[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949461	chr16:71196153-71579711	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv1064435	chr16:71440719-71488771	Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs8051974	FAM65A	cis	cerebellum	SCAN
rs8051974	CTRL	cis	cerebellum	SCAN
rs8051974	NRN1L	cis	parietal	SCAN
rs8051974	HSF4	cis	parietal	SCAN
rs8051974	ATP6V0D1	cis	parietal	SCAN
rs8051974	HP	cis	multi-tissue	Pritchard
rs8051974	ZNF23	cis	cerebellum	SCAN

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71479400-71489200	ZNF genes & repeats	Liver	Liver
2	chr16:71480600-71491000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
3	chr16:71481000-71489000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr16:71481600-71490400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
5	chr16:71481600-71493000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr16:71481800-71491000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr16:71482000-71488800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
8	chr16:71482000-71488800	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
9	chr16:71482000-71489200	ZNF genes & repeats	GM12878-XiMat	blood
10	chr16:71482000-71489200	Strong transcription	HepG2	liver
11	chr16:71482000-71489600	ZNF genes & repeats	Fetal Stomach	stomach
12	chr16:71482000-71490200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr16:71482000-71490200	ZNF genes & repeats	Aorta	Aorta
14	chr16:71482000-71490600	ZNF genes & repeats	Ovary	ovary
15	chr16:71482000-71491000	ZNF genes & repeats	NHLF	lung
16	chr16:71482400-71490800	ZNF genes & repeats	Fetal Intestine Small	intestine
17	chr16:71482400-71490800	Strong transcription	Placenta Amnion	Placenta Amnion
18	chr16:71482600-71489600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
19	chr16:71483400-71491200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr16:71483600-71490800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr16:71484600-71490800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr16:71484600-71494600	Weak transcription	HUVEC	blood vessel
23	chr16:71484600-71495200	Weak transcription	Fetal Heart	heart
24	chr16:71484600-71495400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr16:71484800-71490400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr16:71484800-71490400	Strong transcription	Placenta	Placenta
27	chr16:71484800-71490600	Strong transcription	Brain Angular Gyrus	brain
28	chr16:71484800-71490800	Strong transcription	HSMMtube	muscle
29	chr16:71485000-71490600	Strong transcription	Brain Cingulate Gyrus	brain
30	chr16:71485000-71490800	Strong transcription	Rectal Smooth Muscle	rectum
31	chr16:71485200-71490800	Strong transcription	Brain Substantia Nigra	brain
32	chr16:71485200-71490800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr16:71485400-71489000	Strong transcription	HMEC	breast
34	chr16:71485400-71490400	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr16:71485400-71490600	ZNF genes & repeats	Lung	lung
36	chr16:71485400-71490800	Strong transcription	Fetal Intestine Large	intestine
37	chr16:71485400-71491000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr16:71485600-71489400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr16:71485600-71490600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr16:71485600-71490600	Strong transcription	Right Ventricle	heart
41	chr16:71485600-71490800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr16:71485600-71490800	Strong transcription	Brain Anterior Caudate	brain
43	chr16:71486000-71490200	Strong transcription	Fetal Kidney	kidney
44	chr16:71486000-71490200	Strong transcription	HSMM	muscle
45	chr16:71486000-71490800	Strong transcription	Muscle Satellite Cultured Cells	--
46	chr16:71486000-71490800	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr16:71486000-71490800	Strong transcription	Fetal Muscle Trunk	muscle
48	chr16:71486000-71490800	Strong transcription	Gastric	stomach
49	chr16:71486200-71490400	Strong transcription	Osteobl	bone
50	chr16:71486200-71490600	Strong transcription	H1 Cell Line	embryonic stem cell

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